MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: infantile epilepsy syndrome (MONDO:0020071)
..Starting node ..progressive myoclonic epilepsy with dystonia ()
Child Nodes:
Sister Nodes:
..benign partial infantile seizures ()
..early infantile epileptic encephalopathy without suppression burst ()
..generalized epilepsy with febrile seizures plus ()
..idiopathic hemiconvulsion-hemiplegia syndrome ()
..infant epilepsy with migrant focal crisis ()
..infantile neuronal ceroid lipofuscinosis ()
..infantile spasms-broad thumbs syndrome ()
..infantile-onset mesial temporal lobe epilepsy with severe cognitive regression ()
..myoclonic epilepsy in non-progressive encephalopathies ()
..progressive myoclonic epilepsy with dystonia ()
..undetermined early-onset epileptic encephalopathy ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	18126
Name:	progressive myoclonic epilepsy with dystonia
Definition:	Progressive myoclonic epilepsy with dystonia is a rare, genetic epilepsy syndrome characterized by neonatal or early infantile onset of severe, progressive, typically frequent and prolonged myoclonic seizures that are refractory to treatment, associated with localized and/or generalized paroxysmal dystonia (which later becomes persistent). Other features include severe hypotonia, hemiplegia, psychomotor regression (or lack of psychomotor development) and progressive cerebral and cerebellar atrophy, with affected individuals becoming progressively non-reactive to environmental stimuli.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	PMED; progressive myoclonus epilepsy with dystonia
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal